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Genome-wide detection of additional fetal chromosomal abnormalities by cell-free DNA testing of 15,626 consecutive pregnant women

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Science China(Life Sciences) 2019年第2期62卷 215-224页

作者： Hong Yao Ya Gao Jia Zhao Rong Zhang Huixin Xu Huamei Hu Yanmei Luo Yuying Yuan Meili Fu Hongyun Zhang Hui Jiang Wei Wang Huanming Yang Jian Wang Zhiqing Liang Fang Chen Department of Gynecology & Obstetrics Southwest Hospital the Third Military Medical University BGI-Shenzhen China National GeneBank BGI-Shenzhen Birth Defect Screening Project Lab BGI-Shenzhen Clinical laboratories of BGI Health BGI-Shenzhen James D.Watson Institute of Genome Sciences Laboratory of Genomics and Molecular Biomedicine Department of Biology University of Copenhagen

Cell-free DNA(cfDNA) testing for common fetal trisomies(T21, T18, T13) is highly effective. However, the usefulness of cfDNA testing in detecting other chromosomal abnormalities is unclear. We evaluated the performance of cfDNA testing for genome-wide abnormalities, and analyzed the incremental yield by reporting extra abnormalities. We performed genome-wide cfDNA testing in 15,626 consecutive pregnancies prospectively enrolled in this study. cfDNA testing results were reported and counseling was given depending on the presence of extra chromosomal abnormalities. cfDNA testing identified 190 cases(1.2%)of chromosomal abnormalities including 100 common trisomies and 90 additional abnormalities. By expanding the cfDNA reporting range to genome-wide abnormalities, the false positive rate increased to 0.39%(Pabnormalities with no ultrasound and biochemical screening findings. cfDNA testing outperformed biochemical screening by showing 60 times higher true positive rate and fewer false negative results.Genome-wide cfDNA testing significantly increased the diagnostic yield by detecting extra abnormalities, especially those without diagnostic indications. Genome-wide cfDNA testing has fewer false positive and false negative results compared with biochemical screening.

关键词： cell-free DNA genome-wide chromosomal abnormalities sensitivity specificity PPV

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Blood Count abnormalities Associated with Death in Patients Infected with SARS-COV-2 at the Ziguinchor EpidemicTreatment Center (ETC)

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Open Journal of Internal Medicine 2023年第4期13卷 304-312页

作者： Coly Mame Ngoné Diallo Kalilou Sarr Habibou Diop Abdoulaye Manga Noel Magloire Diatta Alassane Medical Analysis Laboratory The Ziguinchor Peace Hospital Ziguinchor Senegal Health Sciences Training and Research Unit The Assane Seck University of Ziguinchor Ziguinchor Senegal Infectious Diseases Department The Ziguinchor Peace Hospital/Ziguinchor Epidemic Treatment Center Ziguinchor Senegal Medical Analysis Laboratory The Ziguinchor Regional Hospital Ziguinchor Senegal

Introduction: SARS-COV-2 infection is a real public health challenge for the World Health Organization and for our country. It is responsible for numerous hematological abnormalities in infected patients. Objectives: To describe the haemogram abnormalities in patients infected with SARS-COV-2 and to determine which ones are associated with death. Material and Method: We conducted a retrospective, descriptive, analytical, cross-sectional study from March 2020 to September 2021. The study included all patients hospitalized with RT-PCR-confirmed COVID-19 who performed a blood count. We evaluated the blood count profile, the pathologies found and the associated blood count abnormalities. Results: A total of 263 patients were included. The mean age of the patients was 63.77 years (range 12 - 90 years). The male sex represented 54.75% (n = 144) while the female sex was 45.25% (n = 119) (sex ratio = 1.21). The most common pathologies were: diabetes: 30.03% (n = 79), high blood pressure: 41.04% (n = 108), and Chronic kidney disease: 7.98 (n = 21). The abnormalities of the haemogram found were essential: anaemia 28.13% (n = 121), hyperleukocytosis with neutrophilic predominance: 29.3% (126), lymphopenia: 34.41% (n = 148), thrombocytopenia: 8.16% (n = 35). The search for hematological factors associated with death in patients showed a significant difference between hyperleukocytosis (p = 0.000) and lymphopenia (p = 0.0001). Conclusion: SARS-COV-2 disease was a mortality factor when associated with lymphopenia and hyperleukocytosis in our series.

关键词： SARS-COV-2 Infection abnormalities Blood Count Death

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A unified model for diagnosing energy usage abnormalities in regional integrated energy service systems

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Global Energy Interconnection 2019年第4期2卷 361-367页

作者： Di Wu Hongwei Ma Jianrong Mao Kaiqi Ma Hao Zheng Zhiqian Bo Xuji Group Corporation Haidian DistrictBeijing100085P.R.China Aalborg University Aalborg DK-9100Denmark CSEE UK Branch Birmingham B152TTUK

An integrated energy service company in an industrial park or commercial building is responsible for managing all energy sources in their local region, including electricity, water, gas, heating, and cooling. To reduce energy wastage and increase energy utilization, it is necessary to perform efficiency analyses and diagnoses on integrated energy systems(IESs). However, the integrated energy data necessary for energy efficiency analyses and diagnoses come from a wide variety of instruments, each of which uses different transmission protocols and data formats. This makes it challenging to handle energy-flow data in a unified manner. Thus, we have constructed a unified model for diagnosing energy usage abnormalities in IESs. Using this model, the data are divided into working days and non-working days, and benchmark values are calculated after the data have been weighted to enable unified analysis of several types of energy data. The energy-flow data may then be observed, managed, and compared in all aspects to monitor sudden changes in energy usage and energy wastage. The abnormal data identified and selected by the unified model are then subjected to big-data analysis using technical management tools, enabling the detection of user problems such as abnormalities pertaining to acquisition device, metering, and energy usage. This model facilitates accurate metering of energy data and improves energy efficiency. The study has significant implications in terms of fulfilling the energy saving.

关键词： Integrated energy services Energy efficiency analysis Energy usage diagnosis Energy usage abnormalities Unified model

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Cardiovascular abnormalities Among Patients with Spontaneous Subarachnoid Hemorrhage.A Single Center Experience

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Cardiovascular Innovations and Applications 2016年第B5期1卷 337-342页

作者： Akram Y.Elgendy Ahmed Mahmoud Islam Y.Elgendy Hend Mansoor C.Richard Conti Department of Medicine University of FloridaGainesvilleFLUSA Division of Cardiovascular Medicine Department of MedicineUniversity of FloridaGainesvilleFLUSA Department of Pharmaceutical Outcomes and Policy University of FloridaGainesvilleFLUSA

Objective:To assess the cardiovascular abnormalities in patients with spontaneous subarachnoid hemorrhage(SAH).Methods:All patients admitted to our institution with a primary diagnosis of spontaneous SAH and had a transthoracic echocardiogram(TTE)performed from 1st of July 2011 until 30th of May 2014 were enrolled.Results:Out of 2058 patients admitted to our institution with a diagnosis of SAH,over a three year period,only 244 patients(12%) had TTE performed during the index hospitalization.In this selected cohort,the mean age was 59 years and 66% of patients were female.Elevated troponin T was noticed in 37% of patients and QTc prolongation was the commonest ECG abnormality occurring in 49% of the patients.Thirty nine patients(16%) had a resting segmental wall motion abnormality on the TTE,including fi ve patients with apical ballooning.In-hospital mortality was 15.6% (38 patients).Conclusion:Cardiovascular abnormalities in selected patients with SAH who had cardiac ultrasound are relatively common;however the incidence of ventricular ballooning is low.In order to attain the correct incidence of cardiovascular abnormalities in SAH patients,all patients admitted with SAH should undergo TTE and have ECG and cardiac markers checked during their hospitalization.

关键词： subarachnoid hemorrhage cardiovascular abnormalities troponin echocardiography apical ballooning

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Prevalence and Correlates of Glucose Homeostasis abnormalities in the Far-North Region Cameroon

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Open Journal of Preventive Medicine 2018年第1期8卷 6-20页

作者： Daniel Lemogoum William Ngatchou Elysée Claude Bika Lele Pierre Amta Philippe Van de Borne Marc Leeman Philippe Donnen Nicolas Nicolas Preumont Jean Paul Degaute Michel Michel Hermans Faculty of Medicine and Pharmaceutical Sciences University of Douala Douala Cameroon ULB-Erasme Hospital Free Brussels University Brussels Belgium Cameroon Heart Foundation Douala Cameroon Medical Research Centre Institute of Medical Research and Medicinal Plants Studies Yaoundé Cameroon School of Public Health Free Brussels University Brussels Belgium Endocrinology and Nutrition Unit Cliniques Universitaires St-Luc Université Catholique de Louvain Brussels Belgium

Background: Evidence indicates a growing burden of glucose homeostasis abnormalities (namely type 2 diabetes mellitus (T2DM) and prediabetes) in Cameroun. The aim of this study was to assess the prevalence and correlates of glucose homeostasis abnormalities (GHA) in the Far-North region of Cameroon, where these variables have not been explored so far. Methods: We included in this population-based cross-sectional survey 461 participants living urban area (Maroua) and 428 dwellers living in rural area (Tokombere) aged at least 18 years, using a multistage-cluster sampling frame. In all participants, we recorded sociodemographic, medical history, clinical data and fasting blood (capillary) glucose (FBG). Diabetes was considered for FBG ≥ 126 mg/dL or being on glucose-lowering medications, and impaired fasting glycemia (IFG) for FBG 100 - 125 mg/dL. Results: The overall age-standardized prevalence of GHA, IFG and diabetes was 33.6%, 21.7% and 11.9%, respectively. Those data were similar between urban and rural areas. Determinants of GHA were age, overweight/obesity, abdominal obesity and hypertension. IFG was only related to abdominal obesity, while diabetes was related to age, family history of diabetes, overweight/obesity, abdominal obesity and hypertension. Conclusion: Glucose homeostasis abnormalities are alarmingly high in Far North Cameroon. Efforts are needed to promote healthier lifestyles and initiate diabetes-screening campaigns in Cameroon.

关键词： Glucose Homeostasis abnormalities Diabetes Prediabetes Far-North Region Cameroon Urban Rural

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A possible association between cervical erosion in pregnant women and congenital abnormalities in their children-a population-based case-control study

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Health 2010年第8期2卷 945-950页

作者： Ferenc Bánhidy Nándor ács Erzsébet H. Puhó Andrew E. Czeizel 不详

Objective to study the possible association between erosion of cervix in pregnant women (ECP) and structural birth defects, i.e. congenital abnormalities (CA) in their offspring. Study design: Comparison of cases with CA and all matched controls without any CA born to wo- men with prospectively and medical record ECP in the population-based large data set of the Hungarian Case-Control Surveillance of Congenital abnormalities (HCCSCA). Results: HCC- SCA contained 22,843 cases and 38,151 matched controls, the informative offspring of 40 (0.18%) case mothers and the newborns of 25 control mothers (0.07%) with ECP were compared and the higher risk for total CA (adjusted OR with 95% CI: 2.7, 1.6-4.4) was found explained by the higher risk of 9 cases with hypospadias (OR with 95% CI: 4.5, 2.1-9.7) and 10 cases with car-diovascular CAs (OR with 95% CI: 3.4, 1.6-7.1), particularly with conotruncal CAs. Conclusions: An unexpected possible association of ECP with higher risk for hypospadias and conotrun-cal cardiovascular CAs was found and these findings are considered as signals that need confirmation or

关键词： Erosion of Cervix in Pregnant Women Birth Outcomes Congenital abnormalities Hypospadias Cardiovascular Malformations

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Clinical Significance of Left Atrial Anatomic abnormalities Identified by Cardiac Computed Tomography

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Advances in Computed Tomography 2015年第1期4卷 1-8页

作者： Ara V. Vehian Brian G. Choi Satinder S. Rekhi Heather A. Young Raman S. Dusaj Robert K. Zeman Department of Medicine George Washington University School of Medicine and Health Sciences Washington DC USA Department of Radiology George Washington University School of Medicine and Health Sciences Washington DC USA Department of Epidemiology and Biostatistics George Washington University School of Public Health and Health Services Washington DC USA Division of Cardiovascular Medicine College of Medicine University of Florida Gainesville USA

Purpose: The clinical significance of newly identified left atrial anatomic abnormalities (LAAA)— accessory appendages, diverticula, septal pouches—by multidetector CT (MDCT) remains unclear. Similar anatomical outpouchings, i.e., the left atrial appendage, have been associated with cardioembolisms and arrhythmia. To test the hypothesis that LAAA are also associated with increased risk of these events, we performed a retrospective analysis to examine the association of LAAA in patients undergoing CT with embolic events and arrhythmia. Methods: 242 patients (mean age 56 SD 12 years, 41% female) were selected who had CT coronary angiography performed with 64-row MDCT between 2007 and 2012 if complete clinical history records were available. CT images were independently reviewed for the presence of LAAA. Association of cerebrovascular accident (CVA) or transient ischemic attack (TIA), atrial fibrillation, and palpitations to LAAA was calculated using odds ratios (OR) with 95% confidence interval (CI) and Fisher’s exact test. Results: After adjusting for age, sex, hypertension, dyslipidemia and diabetes via multiple logistic regression, patients with accessory appendages are more likely to have reported palpitations (OR: 1.80;CI: 1.03 - 3.16). Patients with diverticula and septal pouches are significantly older than those without these abnormalities (p = 0.01 and p = 0.02, respectively). Septal pouches are associated with diabetes (OR: 2.29;95%CI: 1.15 - 4.54). Conclusions: Accessory left atrial appendages are associated with palpitations. Patients with septal pouches and diverticula are significantly older than those patients without these anatomic abnormalities, suggesting age dependency of these findings. None of these anatomic abnormalities were associated with thromboembolic events after adjustment for potentially confounding comorbidities.

关键词： Left Atrium Anatomic abnormalities Accessory Appendage Diverticula Septal Pouch

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Transcraneal Magnetic Stimulation Improves Sleep Parameters in Patients Affected with Imsomnia Associated to Electroencephalographic abnormalities

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Neuroscience & Medicine 2014年第1期5卷 72-77页

作者： Oscar Sánchez-Escandón Yoaly Arana-Lechuga Guadalupe Terán-Pérez ángel Ruiz-Chow Enrique Esqueda-Leon Rosa Obdulia González-Robles Paul Shkurovich-Bialik Miguel ángel Collado-Corona Javier Velázquez-Moctezuma American British Cowdray Medical Center Neurological Center Santa Fe Campus Ciudad de México México Mathematics Department Universidad Autónoma Metropolitana-Iztapalapa Ciudad de México México Psychiatry Department Hospital General Naval de Alta Especialidad Ciudad de México México Sleep Disorders Clinic Universidad Autónoma Metropolitana-Iztapalapa Ciudad de México México

Insomnia is one of the most frequently observed sleep disorders, affecting nearly 10% of the general population. It has multiple etiological factors. Recently, it has been reported that EEG abnormalities are associated with insomnia in patients previously diagnosed as idiopathic insomniacs. In addition, transcranial magnetic stimulation (TMS) has shown to be effective in the treatment of disorders characterized by neural hyper-excitability. Method: In the present study, patients with insomnia and EEG abnormalities were submitted to slow repetitive trans-cranial magnetic stimulation, for 15 minutes daily during 10 days. Polysomnographic recordings were performed before and after TMS. Results: The results indicate that the presence of EEG abnormalities significantly decreased after TMS. In addition, most of the sleep parameters showed significant improvement. Conclusions: These data support the notion that TMS is a reliable therapeutic tool for patients affected with abnormalities linked to neuronal hyper-excitability.

关键词： Insomnia Transcraneal Magnetic Stimulation EEG abnormalities Hyperexcitability Sleep Architecture Polysomnographic

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Natural background radiation dose rate levels and incidences of reproductive abnormalities in high radiation area in Abeokuta, Southwestern Nigeria

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Natural Science 2013年第11期5卷 1145-1153页

作者： Nnamdi Norbert Jibiri John Bamidele Famodimu Radiation and Health Physics Research Laboratory Department of Physics University of Ibadan Ibadan Nigeria Radiation and Health Physics Research Laboratory Department of Physics University of Ibadan Ibadan Nigeria

A 10 y (1999-2008) birth records from two public and most accessible maternity hospitals locally in the city of Abeokuta, Nigeria were used to investigate the possible association of high outdoor gamma radiation exposure on reproductive abnormalities in the city. From the delivery record of 11,923 births in the period under study, a total number of 485 incidences of reproductive abnormalities were recoded. These incidences comprise 228 multiple births, 190 still births and, 67 premature births. Using the available terrestrial gamma radiation exposure data for the city and different reproductive abnormalities, regression assessment was carried out using the Pearson Product Moment (PPM) correlation statistics. The correlation showed that the incidences of reproductive abnormalities and the radiation dose levels were negatively correlated and correlation coefficient values were very low for each of the reproductive abnormalities considered. Factors such as socio-economic potentials of patients, dietary and other environmental factors may have substantial influence on the reproductive defects in the area other than radiation. However, the present study has added to the radiometric information needed in understanding the relationship between natural outdoor radiation exposure and occurrences of reproductive abnormalities in areas of high radiation in the country.

关键词： High Background Radiation Gamma Radiation Dose Rates Reproductive abnormalities Abeokuta Nigeria

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Role of SOX2 in foregut development in relation to congenital abnormalities

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World Journal of Medical Genetics 2014年第4期4卷 94-104页

作者： Kim Schilders Joshua K Ochieng Cornelis P van de Ven Cristina Gontan Dick Tibboel Robbert J Rottier Departments of Pediatric Surgery of The Erasmus MC-Sophia Children’s Hospital 3000 CA RotterdamThe Netherlands The Department of Reproduction and Development of the Erasmus MC 3015 CN RotterdamThe Netherlands Cell Biology of the Erasmus MC 3000 CA RotterdamThe Netherlands

The uptake of the two essential ingredients for life, oxygen and nutrients, occurs primarily through the oral cavity, but these two lifelines need to be separated with high accuracy once inside the body. The two systems, the gas exchange pulmonary system and the gastro-intestinal feeding system, are derived from the same primitive embryonic structure during development, the foregut, which need to be separated before birth. In certain newborns, this separation occurs not or insufficiently, leading to life threatening conditions, sometimes incompatible with life. The development of the foregut, trachea and lungs is influenced and coordinated by a multitude of signaling cascades and transcription factors. In this review, we will highlight the development of the foregut and pulmonary system and focus on associated congenital abnormalities in light of known genetic alterations with specific attention to the transcription factor SOX2.

关键词： SOX2 Congenital foregut abnormalities Lung development

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